Location [1]
Protein [2]
Notch 1 intracellular domain
Synonyms [1]
AOS5, AOVD1, hN1, TAN1

Notch 1 (NOTCH1) is a gene that encodes a transmembrane protein that functions in multiple developmental processes and the interactions between adjacent cells. The transmembrane protein also functions as a receptor for membrane bound ligands. Fusions, missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions and insertions are observed in cancers such as esophageal cancer, hematopoietic and lymphoid cancers, and stomach cancer.

NOTCH1 is altered in 4.48% of all cancers with colon adenocarcinoma, lung adenocarcinoma, breast invasive ductal carcinoma, endometrial endometrioid adenocarcinoma, and skin squamous cell carcinoma having the greatest prevalence of alterations [3].

NOTCH1 GENIE Cases - Top Diseases

The most common alterations in NOTCH1 are NOTCH1 Mutation (3.80%), NOTCH1 Missense (3.39%), NOTCH1 Exon 26 Mutation (0.41%), NOTCH1 Nonsense (0.42%), and NOTCH1 Deletion (0.17%) [3].

NOTCH1 GENIE Cases - Top Alterations

Significance of NOTCH1 in Diseases

Breast Carcinoma +

Adenoid Cystic Carcinoma +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Lymphoma +

Malignant Solid Tumor +

Head And Neck Squamous Cell Carcinoma +

Head And Neck Carcinoma +

Bladder Carcinoma +

Colon Carcinoma +

Melanoma +

Anaplastic Astrocytoma +

Mantle Cell Lymphoma +

Glioblastoma +

Colorectal Carcinoma +

Non-Small Cell Lung Carcinoma +

Sarcoma +

Ovarian Carcinoma +

Soft Tissue Sarcoma +

Pancreatic Carcinoma +

Follicular Lymphoma +

Myeloid Neoplasm +

Cholangiocarcinoma +

Acute Myeloid Leukemia +

Chronic Lymphocytic Leukemia +

Hodgkin Lymphoma +

Myelodysplastic Syndrome With Excess Blasts-2 +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.